Literature DB >> 26925924

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates.

Arjun K Manrai1, John P A Ioannidis2, Isaac S Kohane1.   

Abstract

Mesh：

Year:  2016        PMID： 26925924     DOI： 10.1001/jama.2016.1519

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  17 in total

1.  Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.

Authors:  Gabriel Lázaro-Muñoz; John M Conley; Arlene M Davis; Anya E R Prince; R Jean Cadigan
Journal:  Genet Test Mol Biomarkers       Date:  2017-02-01

2.  Ethics and Epistemology in Big Data Research.

Authors:  Wendy Lipworth; Paul H Mason; Ian Kerridge; John P A Ioannidis
Journal:  J Bioeth Inq       Date:  2017-03-20       Impact factor: 1.352

3.  The Application of Genomics in Diabetes: Barriers to Discovery and Implementation.

Authors:  James S Floyd; Bruce M Psaty
Journal:  Diabetes Care       Date:  2016-11       Impact factor: 19.112

Review 4.  Biomedical informatics and machine learning for clinical genomics.

Authors:  James A Diao; Isaac S Kohane; Arjun K Manrai
Journal:  Hum Mol Genet       Date:  2018-05-01       Impact factor: 6.150

5.  Cardioinformatics: the nexus of bioinformatics and precision cardiology.

Authors:  Bohdan B Khomtchouk; Diem-Trang Tran; Kasra A Vand; Matthew Might; Or Gozani; Themistocles L Assimes
Journal:  Brief Bioinform       Date:  2020-12-01       Impact factor: 11.622

6.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

7.  Population-Based Penetrance of Deleterious Clinical Variants.

Authors:  Iain S Forrest; Kumardeep Chaudhary; Ha My T Vy; Ben O Petrazzini; Shantanu Bafna; Daniel M Jordan; Ghislain Rocheleau; Ruth J F Loos; Girish N Nadkarni; Judy H Cho; Ron Do
Journal:  JAMA       Date:  2022-01-25       Impact factor: 157.335

Review 8.  Evidence-based medicine and big genomic data.

Authors:  John P A Ioannidis; Muin J Khoury
Journal:  Hum Mol Genet       Date:  2018-05-01       Impact factor: 6.150

Review 9.  Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

Authors:  Scott D Grosse; Lyle C Gurrin; Nadine A Bertalli; Katrina J Allen
Journal:  Genet Med       Date:  2017-08-03       Impact factor: 8.822

10.  Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis.

Authors:  Zeeshan Ahmed; Eduard Gibert Renart; Saman Zeeshan; XinQi Dong
Journal:  Hum Genomics       Date:  2021-06-26       Impact factor: 4.639
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